Varaico: Literature-Extracted Genetic Variants

Gene:ABHD17A
Variant:p.S5delFs
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ABHD17A

NM_001130111.2:p.S5delFs

Associated Papers

A Gly684Ala substitution in the androgen receptor is the cause for azoospermia in a Chinese family with mild androgen insensitivity syndrome and normal hormone levels.

Yuan Y et al.

Frontiers in Genetics, 2022

36159980 (PubMed )
Supplement: Table1.XLSX › InDel

Defective homologous recombination DNA repair as therapeutic target in advanced chordoma.

Gröschel S et al.

Nature Communications, 2019

30967556 (PubMed )
Supplement: 41467_2019_9633_MOESM3_ESM.xlsx › Indels
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